TOR3A torsin family 3 member A

Information
Symbol
TOR3A
Type
protein-coding
Description
torsin family 3 member A
Entrez Gene ID
64222
Genome
hg19
Position
chr1:179,051,205-179,065,131
Genome
hg38
Position
chr1:179,082,070-179,095,996
MIM
607555 OMIM
HGNC
HGNC:11997 HGNC
Ensembl
ENSG00000186283 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
64
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ADIR
SYNONYM ADIR2
MIM 607555 OMIM
HGNC HGNC:11997 HGNC
Ensembl ENSG00000186283 Ensembl
AllianceGenome HGNC:11997
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367627.8 hg38 chr1 179,082,070 179,095,996 13,927
ENST00000352445.10 hg38 chr1 179,082,086 179,098,023 15,938
ENST00000367627.8 hg19 chr1 179,051,205 179,065,131 13,927
ENST00000352445.10 hg19 chr1 179,051,221 179,067,158 15,938
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